Genome Editing for Inherited Retinal Degenerations

editorial: inherited retinal degenerations

in this issue of irjo movassat et al1 (p: 33-38) present a case series of leber's congenital amaurosis (lca). lca is the most severe form of inherited retinal dystrophy responsible for congenital blindness with an early age of onset and accounts for at least 5% of all inherited retinal diseases which affect about one in 3500 individuals in the world. usually degenerative anomalies of the r...

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially applicable therapies. Here we show the current findings of a target capture next-generation sequencing stu...

Clinical characteristics and current therapies for inherited retinal degenerations.

Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307-316.). IRDs may be inherited as Mendelian traits or t...

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable ge...

Death at an early age. Apoptosis in inherited retinal degenerations.